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Neurofilaments in ALS diagnostics need further prospective appraisal, but are a frontrunner as a potential outcome measure in therapeutic trials
The neurodegenerative disorder amyotrophic lateral sclerosis (ALS, the commonest phenotype within the broad term motor neuron disease) is not one disease aetiologically. There is also a wide range of disease progression rate around a median survival of 3 years from symptom onset, and it has remained a quintessentially clinical diagnosis.1 Diagnostic delay, phenotype heterogeneity and a reliance on survival as the main outcome measure, all conspire to necessitate large and lengthy therapeutic trial designs and have brought the development of biomarkers to the forefront of research efforts. In their JNNP paper, Steinacker et al2 further strengthen the emerging diagnostic and prognostic value of cerebrospinal fluid (CSF) neurofilaments across an unprecedentedly large number of patients with ALS compared to those with a range of other neurological …
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